Suchergebnisse - "Autism Spectrum Disorder genetics"
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1
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Mol Psychiatry
Molecular psychiatry, vol. 30, no. 5, pp. 1937-1951Schlagwörter: Male, 0301 basic medicine, Autism Spectrum Disorder, Receptor, Metabotropic Glutamate 5, Receptors, Metabotropic Glutamate, Hippocampus, Article, Fragile X Mental Retardation Protein, Mice, 03 medical and health sciences, Pregnancy, Animals, 0303 health sciences, Neuronal Plasticity, TOR Serine-Threonine Kinases, Settore BIO/13, Mice, Inbred C57BL, Disease Models, Animal, Poly I-C, Autism Spectrum Disorder/metabolism, Autism Spectrum Disorder/genetics, Autism Spectrum Disorder/physiopathology, TOR Serine-Threonine Kinases/metabolism, TOR Serine-Threonine Kinases/genetics, Fragile X Mental Retardation Protein/metabolism, Fragile X Mental Retardation Protein/genetics, Female, Neuronal Plasticity/physiology, Neuronal Plasticity/genetics, Prenatal Exposure Delayed Effects/metabolism, Signal Transduction/physiology, Receptor, Metabotropic Glutamate 5/metabolism, Hippocampus/metabolism, Fragile X Syndrome/metabolism, Fragile X Syndrome/genetics, Poly I-C/pharmacology, Receptors, Metabotropic Glutamate/metabolism, Prenatal Exposure Delayed Effects, Fragile X Syndrome, Settore BIOS-10/A - Biologia cellulare e applicata, Signal Transduction
Dateibeschreibung: application/pdf
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2
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Leblond, C S, Rolland, T, Barthome, E, Mougin, Z, Fleury, M, Ecker, C, Bonnot-Briey, S, Cliquet, F, Tabet, A-C, Maruani, A, Chaumette, B, Green, J, Delorme, R & Bourgeron, T 2024, 'A Genetic Bridge Between Medicine and Neurodiversity for Autism', Annual Review of Genetics, vol. 58, no. 1, pp. 487-512. https://doi.org/10.1146/annurev-genet-111523-102614
Annual ReviewsSchlagwörter: 0301 basic medicine, Autism Spectrum Disorder, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, autism, common genetic variants, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, rare genetic variants, 03 medical and health sciences, Intellectual Disability, Humans, Genetic Predisposition to Disease, neurodiversity, Autistic Disorder, Child, Multidisciplinary research, 0303 health sciences, [SCCO.NEUR] Cognitive science/Neuroscience, Genetic Variation, participative research, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, Phenotype, Genetic Variation/genetics, Attention Deficit Disorder with Hyperactivity, Attention Deficit Disorder with Hyperactivity/genetics, Autistic Disorder/genetics
Dateibeschreibung: application/pdf
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3
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L, Chong, J X, De Luca, C, Dean, S J, Egense, A, Goel, H, Guenzel, A J, Hüffmeier, U, Legius, E, Mancini, G M S, Marcos-Alcalde, I, Niclass, T, Planes, M, Redon, S, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, J J, Tao, A M, Thiffault, I, Van Esch, H, Wentzensen, I M, Barakat, T S, Møller, R S, Gomez-Puertas, P, Chung, W K, Gardella, E & Tümer, Z 2024, ' The phenotypic and genotypic spectrum of individuals with mono-or biallelic ANK3 variants ', Clinical Genetics, vol. 106, no. 5, pp. 574-584 . https://doi.org/10.1111/cge.14587
Schlagwörter: Male, 0301 basic medicine, Autism Spectrum Disorder, Epilepsy/genetics, Ankyrins/genetics, aggressivity, ankyrin‐G, autism spectrum disorder, epilepsy, hypotonia, intellectual disability, language delay, neurodevelopmental disorder, sleep disturbances, Child, epilespy, Genetics & Heredity, 0303 health sciences, Phenotype, Child, Preschool, Female, Attention Deficit Disorder with Hyperactivity/genetics, Life Sciences & Biomedicine, Adult, Ankyrins, Mutation/genetics, Adolescent, Genotype, 3105 Genetics, 03 medical and health sciences, Intellectual Disability, Humans, Genetic Predisposition to Disease, Language Development Disorders, Preschool, Alleles, Genetic Association Studies, 0604 Genetics, Science & Technology, ankyrin-G, Epilepsy, 3202 Clinical sciences, Infant, 1103 Clinical Sciences, GENE, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Attention Deficit Disorder with Hyperactivity, Language Development Disorders/genetics, Mutation, ANKYRIN
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38988293
https://hdl.handle.net/1887/4210430
https://lirias.kuleuven.be/handle/20.500.12942/748352
https://doi.org/10.1111/cge.14587
https://curis.ku.dk/ws/files/407596628/Clinical_Genetics_2024_Furia_The_phenotypic_and_genotypic_spectrum_of_individuals_with_mono_or_biallelic_ANK3.pdf
https://portal.findresearcher.sdu.dk/da/publications/8bd5234c-9b77-4773-a84b-a00885d3d21d
https://doi.org/10.1111/cge.14587 -
4
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Mol Psychiatry
Molecular psychiatry 29(10), 2997-3009 (2024). doi:10.1038/s41380-024-02559-9
Molecular PsychiatrySchlagwörter: methods [Microscopy], Autism Spectrum Disorder, Chromosomes, Human, Pair 22, metabolism [Autism Spectrum Disorder], Chromosome Disorders, Nerve Tissue Proteins, Article, Mice, Young Adult, pathology [Brain], Animals, Humans, ddc:610, genetics [Nerve Tissue Proteins], Mice, Knockout, Microscopy, metabolism [Nerve Tissue Proteins], Microfilament Proteins, Brain, metabolism [Microfilament Proteins], metabolism [Synapses], Autism spectrum disorders, Mice, Inbred C57BL, metabolism [Brain], Synapses, genetics [Autism Spectrum Disorder], Female, 692/699/476/1373, Mice, Inbred C57BL [MeSH], Synapses/metabolism [MeSH], Microfilament Proteins/metabolism [MeSH], Nerve Tissue Proteins/metabolism [MeSH], Chromosome Disorders [MeSH], 13/51, Chromosomes, Human, Pair 22 [MeSH], Microfilament Proteins/genetics [MeSH], Chromosome Deletion [MeSH], 14/63, 13/1, Female [MeSH], Brain/pathology [MeSH], Humans [MeSH], Animals [MeSH], Nerve Tissue Proteins/genetics [MeSH], 64/60, Mice, Knockout [MeSH], Mice [MeSH], Autism Spectrum Disorder/metabolism [MeSH], Brain/metabolism [MeSH], Young Adult [MeSH], Microscopy/methods [MeSH], Autism Spectrum Disorder/genetics [MeSH], 631/378, article, genetics [Microfilament Proteins], Chromosome Deletion, Neuroscience
Dateibeschreibung: application/pdf
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Autoren: et al.
Quelle: J Med Case Rep
Journal of Medical Case Reports, Vol 19, Iss 1, Pp 1-7 (2025)
Siracusano, M, Stellato, M, Carloni, E, Miccolo, G, Riccioni, A, Moavero, R, Voci, A, Valeriani, M, Galasso, C, Pompili, A, Pizzuti, A, Bernardini, L, Goldoni, M & Mazzone, L 2025, 'Autism spectrum disorder and 3p24.3p23 triplication : a case report', Journal of Medical Case Reports, vol. 19, no. 1, 106. https://doi.org/10.1186/s13256-025-05124-2Schlagwörter: Male, Chromosomes, Human, Pair 3/genetics, DNA Copy Number Variations, Autism Spectrum Disorder, Autism, Developmental Disabilities, 3p24.3p23, Case Report, 3p triplication, Autism Spectrum Disorder/genetics, Phenotype, Neurodevelopmental disorder, Child, Preschool, Case report, Medicine, Humans, Chromosomes, Human, Pair 3, Developmental Disabilities/genetics
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40065383
https://doaj.org/article/e0a7ec04b3664d0694f1c96f38ec4d18
https://vbn.aau.dk/da/publications/6c92c9cb-752c-4eb7-b550-39d0372e796b
http://www.scopus.com/inward/record.url?scp=105000056583&partnerID=8YFLogxK
https://vbn.aau.dk/ws/files/770373838/s13256-025-05124-2.pdf
https://doi.org/10.1186/s13256-025-05124-2
https://hdl.handle.net/2108/416238
https://doi.org/10.1186/s13256-025-05124-2 -
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Mol Autism
Molecular Autism, Vol 16, Iss 1, Pp 1-23 (2025)
MOLECULAR AUTISMSchlagwörter: Male, Autism Spectrum Disorder, Intellectual disability, HYPERACTIVITY, Mice, Medicine and Health Sciences, Human health sciences, Autism spectrum disorder, Child, Behavior, Animal, MOUSE MODEL, DENDRITIC SPINES, Pedigree, DNA-Binding Proteins, Phenotype, Neurology, Psychiatry and Mental Health, Child, Preschool, Female, Autistic Disorder/genetics, Adult, SOCIAL RECOGNITION, PDZD8, SPECTRUM DISORDERS, Sciences de la santé humaine, NEUROGENESIS, Developmental Neuroscience, Neurologie, Social discrimination, Intellectual Disability, Animals, Humans, FRAGILE-X-SYNDROME, Membrane Proteins/genetics, Autistic Disorder, RC346-429, Social Behavior, OLFACTORY-BULB, Molecular Biology, Alleles, duplin protein, mouse, Research, Biology and Life Sciences, Membrane Proteins, ADULTS, DYSFUNCTION, Intellectual Disability/genetics, Olfactory behavior, Autism Spectrum Disorder/genetics, Mutation, Neurology. Diseases of the nervous system, Developmental Biology
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40016860
https://doaj.org/article/3109b90540ea45c495a28d37ac6d81d9
https://ora.ox.ac.uk/objects/uuid:0acf5689-c19a-46ce-8c24-1c8e0f774fde
https://doi.org/10.1186/s13229-025-00650-8
https://hdl.handle.net/2268/329268
https://doi.org/10.1186/s13229-025-00650-8
http://hdl.handle.net/1854/LU-01JP2KV5VF0XW104VYDP9GRMZA
https://biblio.ugent.be/publication/01JP2KV5VF0XW104VYDP9GRMZA
https://biblio.ugent.be/publication/01JP2KV5VF0XW104VYDP9GRMZA/file/01JQBQWNEQR154PMKBSRXA5261
http://doi.org/10.1186/s13229-025-00650-8 -
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Autoren: et al.
Quelle: Mol Psychiatry
Schlagwörter: Histone Demethylases, Male, Heart Defects, Congenital, 0301 basic medicine, 0303 health sciences, Behavior, Animal, Autism Spectrum Disorder, 38/77, 692/699/476/1373, immediate-communication, Mice, Inbred C57BL [MeSH], Immediate Communication, 631/337, 38/91, 38/39, 38/61, Autistic Disorder/genetics [MeSH], Male [MeSH], Chromosome Deletion [MeSH], Behavior, Animal [MeSH], Disease Models, Animal [MeSH], Female [MeSH], Heart Defects, Congenital [MeSH], Histone-Lysine N-Methyltransferase/genetics [MeSH], 631/208, Chromosomes, Human, Pair 9 [MeSH], Transcriptome/genetics [MeSH], 631/154, Intellectual Disability/genetics [MeSH], Animals [MeSH], Histone-Lysine N-Methyltransferase/metabolism [MeSH], 64/60, 38/70, Mice [MeSH], Brain/metabolism [MeSH], Haploinsufficiency/genetics [MeSH], Histone Demethylases/genetics [MeSH], Autism Spectrum Disorder/genetics [MeSH], Craniofacial Abnormalities/genetics [MeSH], Histone Demethylases/metabolism [MeSH], 631/378, Brain, Haploinsufficiency, Histone-Lysine N-Methyltransferase, Craniofacial Abnormalities, Mice, Inbred C57BL, Mice, Disease Models, Animal, 03 medical and health sciences, Intellectual Disability, Animals, Female, Autistic Disorder, Chromosome Deletion, Transcriptome, Chromosomes, Human, Pair 9
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Mol Psychiatry
Molecular psychiatry 29(3), 704-717 (2024). doi:10.1038/s41380-023-02362-y
Molecular PsychiatrySchlagwörter: Male, genetics [Chromosome Disorders], drug effects [Cell Cycle], Autism Spectrum Disorder, Chromosomes, Human, Pair 22, genetics [Transcriptome], metabolism [Autism Spectrum Disorder], metabolism [Hippocampus], Chromosome Disorders, Hippocampus, Mice, Shank3 protein, mouse, CTNNB1 protein, mouse, genetics [Cyclic AMP Response Element-Binding Protein], Cyclic AMP Response Element-Binding Protein, genetics [beta Catenin], metabolism [Autistic Disorder], genetics [Nerve Tissue Proteins], beta Catenin, Cells, Cultured, Mice, Knockout, Cell Cycle, Microfilament Proteins, Creb1 protein, mouse, metabolism [beta Catenin], Autism spectrum disorders, Extracellular Matrix, 3. Good health, metabolism [Cyclic AMP Response Element-Binding Protein], metabolism [Chromosome Disorders], genetics [Autism Spectrum Disorder], Chromosome Deletion, metabolism [Extracellular Matrix], Nerve Tissue Proteins, Lithium, Article, genetics [Autistic Disorder], Animals, ddc:610, Autistic Disorder, 14/19, Cyclic AMP Response Element-Binding Protein/genetics [MeSH], 692/699/476/1373, Cyclic AMP Response Element-Binding Protein/metabolism [MeSH], Mice, Inbred C57BL [MeSH], Microfilament Proteins/metabolism [MeSH], Nerve Tissue Proteins/metabolism [MeSH], Extracellular Matrix/metabolism [MeSH], Lithium/pharmacology [MeSH], 38/91, Chromosome Disorders/metabolism [MeSH], beta Catenin/genetics [MeSH], 13/51, Cell Cycle/genetics [MeSH], Autistic Disorder/genetics [MeSH], Male [MeSH], Cell Cycle/drug effects [MeSH], Microfilament Proteins/genetics [MeSH], Chromosome Deletion [MeSH], Hippocampus/metabolism [MeSH], Autistic Disorder/metabolism [MeSH], beta Catenin/metabolism [MeSH], Autism Spectrum Disorder/drug therapy [MeSH], Transcriptome/genetics [MeSH], Animals [MeSH], Nerve Tissue Proteins/genetics [MeSH], 64/60, Chromosomes, Human, Pair 22/genetics [MeSH], Mice, Knockout [MeSH], Mice [MeSH], Autism Spectrum Disorder/metabolism [MeSH], Chromosome Disorders/genetics [MeSH], Cells, Cultured [MeSH], 38, Autism Spectrum Disorder/genetics [MeSH], 14, 631/378, article, metabolism [Nerve Tissue Proteins], pharmacology [Lithium], metabolism [Microfilament Proteins], Mice, Inbred C57BL, drug therapy [Autism Spectrum Disorder], genetics [Cell Cycle], genetics [Chromosomes, Human, Pair 22], genetics [Microfilament Proteins], Transcriptome, Neuroscience
Dateibeschreibung: application/pdf
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Autoren: et al.
Quelle: LaBianca, S, Brikell, I, Helenius, D, Loughnan, R, Mefford, J, Palmer, C E, Walker, R, Gådin, J R, Krebs, M, Appadurai, V, Vaez, M, Agerbo, E, Pedersen, M G, Børglum, A D, Hougaard, D M, Mors, O, Nordentoft, M, Mortensen, P B, Kendler, K S, Jernigan, T L, Geschwind, D H, Ingason, A, Dahl, A W, Zaitlen, N, Dalsgaard, S, Werge, T M & Schork, A J 2024, ' Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder ', Nature Genetics, vol. 56, no. 2, pp. 234-244 . https://doi.org/10.1038/s41588-023-01593-7
Nature Genetics, vol 56, iss 2
LaBianca, S, Brikell, I, Helenius, D, Loughnan, R, Mefford, J, Palmer, C E, Walker, R, Gådin, J R, Krebs, M, Appadurai, V, Vaez, M, Agerbo, E, Pedersen, M G, Børglum, A D, Hougaard, D M, Mors, O, Nordentoft, M, Mortensen, P B, Kendler, K S, Jernigan, T L, Geschwind, D H, Ingason, A, Dahl, A W, Zaitlen, N, Dalsgaard, S, Werge, T M & Schork, A J 2024, 'Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder', Nature Genetics, vol. 56, no. 2, pp. 234-244. https://doi.org/10.1038/s41588-023-01593-7Schlagwörter: Multifactorial Inheritance, Autism Spectrum Disorder, Intellectual and Developmental Disabilities (IDD), Autism, Agricultural biotechnology, Medical and Health Sciences, Clinical Research, 2.3 Psychological, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Humans, Multifactorial Inheritance/genetics, Pediatric, Prevention, Human Genome, Biological Sciences, Mental Illness, Attention Deficit Hyperactivity Disorder (ADHD), Bioinformatics and computational biology, 3. Good health, Brain Disorders, Autism Spectrum Disorder/genetics, Mental Health, Good Health and Well Being, Attention Deficit Disorder with Hyperactivity, Mental health, social and economic factors, Attention Deficit Disorder with Hyperactivity/genetics, Developmental Biology
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38036780
https://curis.ku.dk/ws/files/429031412/Polygenic_profiles.pdf
https://escholarship.org/content/qt2xs809ct/qt2xs809ct.pdf
https://escholarship.org/uc/item/2xs809ct
https://pure.au.dk/portal/en/publications/ef2e35b5-907f-4d60-b175-a532bb6a94f7
https://doi.org/10.1038/s41588-023-01593-7 -
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Nat Neurosci
Nature neuroscience, vol. 26, no. 7, pp. 1208-1217
Nature neuroscience, vol 26, iss 7
Nature NeuroscienceSchlagwörter: Pediatric Research Initiative, Autism Spectrum Disorder, Intellectual and Developmental Disabilities (IDD), Autism, Humans, Gastrointestinal Microbiome/genetics, Brain-Gut Axis, Autism Spectrum Disorder/genetics, Autism Spectrum Disorder/metabolism, Cross-Sectional Studies, Bayes Theorem, Reproducibility of Results, Cytokines, Microbiology, Article, 2.3 Psychological, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Psychology, Autism spectrum disorders, Genomics, Data integration, Aetiology, Pediatric, Neurology & Neurosurgery, General Neuroscience, Neurosciences, Brain Disorders, Gastrointestinal Microbiome, Mental Health, Mental health, Cognitive Sciences, social and economic factors
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37365313
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2E08CF63AC1B3
https://serval.unil.ch/notice/serval:BIB_2E08CF63AC1B
https://serval.unil.ch/resource/serval:BIB_2E08CF63AC1B.P001/REF.pdf
https://repository.publisso.de/resource/frl:6462367
https://escholarship.org/uc/item/06b011nh
https://escholarship.org/content/qt06b011nh/qt06b011nh.pdf -
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-xSchlagwörter: 0301 basic medicine, Carrier Proteins/genetics, 0303 health sciences, Autism Spectrum Disorder, Ubiquitin-Protein Ligases, Mutation, Missense, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, 03 medical and health sciences, Phenotype, Neurodevelopmental Disorders, NDD, WES, Intellectual Disability, Mutation, Humans, Ubiquitin-Protein Ligases/genetics, Missense, Carrier Proteins
Dateibeschreibung: application/pdf; STAMPA
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de DéuSchlagwörter: Newborn screening, Male, Glia Maturation Factor, Autism Spectrum Disorder, Pédiatrie, Intellectual disability, autism spectrum disorder, Pediatrics, Sciences de la santé humaine, Microcephaly/genetics, Neonatal Screening, Intellectual Disability, Humans, microcephaly, Human health sciences, Autism spectrum disorder, Autism Spectrum Disorder/diagnosis, newborn screening, BCKDK, Infant, Newborn, Infant, Intellectual Disability/genetics, 3. Good health, Autism Spectrum Disorder/genetics, Cross-Sectional Studies, intellectual disability, Microcephaly, Amino Acids, Branched-Chain/metabolism, Female, Neurology (clinical), Amino Acids, Branched-Chain
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Autoren: et al.
Quelle: Hum Genet
Schlagwörter: 0301 basic medicine, 0303 health sciences, Autism Spectrum Disorder, Gene Expression Profiling, Intracellular Signaling Peptides and Proteins, Protein Serine-Threonine Kinases, Neurodevelopmental Disorders/genetics, 3. Good health, Autism Spectrum Disorder/genetics, 03 medical and health sciences, Neurodevelopmental Disorders, Humans, Protein Serine-Threonine Kinases/genetics, Exome, Intracellular Signaling Peptides and Proteins/genetics, Frameshift Mutation, Original Investigation
Dateibeschreibung: application/pdf
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Genetics in medicineSchlagwörter: 0301 basic medicine, FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, Enamel hypoplasia, PROTEINS, Autism Spectrum Disorder, Messenger, Fos-Related Antigen-2/genetics, FOSL2, Fos-Related Antigen-2, Autism Spectrum Disorder/genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, qGenomics Laboratories, 3105 Genetics, Neurodevelopmental Disorders/genetics, 03 medical and health sciences, Adams-Oliver syndrome, IRF4, Ectodermal Dysplasia, Exons/genetics, AP-1 complex, Humans, Aplasia cutis congenita of scalp, RNA, Messenger, FRA-2, enamel hypoplasia, Genetics & Heredity, 0604 Genetics, 0303 health sciences, Science & Technology, ERN-RITA, Scalp, IDENTIFICATION, FOXO1, Ectodermal Dysplasia/genetics, 1103 Clinical Sciences, Exons, Jeffrey Modell Foundation, Transcription Factor AP-1, aplasia cutis congenita of scalp, DIFFERENTIATION, HEK293 Cells, Neurodevelopmental Disorders, RNA, Scalp/abnormalities/metabolism, Human medicine, Transcription Factor AP-1/genetics, Life Sciences & Biomedicine, BONE-FORMATION
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36197437
http://hdl.handle.net/10261/295379
https://repository.uantwerpen.be/docstore/d:irua:17026
https://hdl.handle.net/10067/1953630151162165141
https://univ-rennes.hal.science/hal-03954791v1
https://doi.org/10.1016/j.gim.2022.09.002
https://univ-rennes.hal.science/hal-03954791v1/document -
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Autoren: et al.
Quelle: Am J Case Rep
Schlagwörter: Developmental Disabilities / genetics, Whole Genome Sequencing, Autism Spectrum Disorder, Codon, Nonsense, Autism Spectrum Disorder / genetics, Developmental Disabilities, KHSRP Protein, Humans, Female, Articles, AGO3 Protein, Child, Human
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38995884
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Autoren: et al.
Quelle: Neuromolecular Med
Schlagwörter: Autism Spectrum Disorder, Review, Rats, Disease Models, Animal, Mice, Development & Genetics, Molecular Reproduction, Animals, Humans, Autism Spectrum Disorder/drug therapy [MeSH], Endocannabinoids/metabolism [MeSH], Humans [MeSH], Anandamide (AEA), Rats [MeSH], Autism spectrum disorder, Animals [MeSH], Endocannabinoids/physiology [MeSH], Mice [MeSH], 2-Arachidonoylglycerol (2-AG), Autism Spectrum Disorder/metabolism [MeSH], Receptors, Cannabinoid/physiology [MeSH], Endocannabinoid system, Autism Spectrum Disorder/genetics [MeSH], Child [MeSH], Disease Models, Animal [MeSH], Receptors, Cannabinoid, Child, Endocannabinoids
Dateibeschreibung: application/pdf
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Autoren: Porschen, Line
Schlagwörter: School, Social Problems, Autism Spectrum Disorder, Inappropriate ADH Syndrome/history, Hierarchy, Social, Psychology, Social, Education, Inappropriate ADH Syndrome, Learning Disabilities/genetics, Learning Disabilities/classification, Specific Learning Disorder, School life, Autism Spectrum Disorder/history, Social Factors, Social Behavior, School Health Services, Social Responsibility, Social Identification, Learning Disabilities, Inappropriate ADH Syndrome/genetics, Learning Disabilities/etiology, Autism Spectrum Disorder/psychology, Social Group, Students/psychology, Social Learning, Learning Disabilities/history, Autism Spectrum Disorder/genetics, Social Adjustment, Academic Performance/history
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Autoren: et al.
Quelle: Mol Psychiatry
Molecular psychiatry, vol. 27, no. 4, pp. 2080-2094Schlagwörter: 0301 basic medicine, 0303 health sciences, 616.8, Autism Spectrum Disorder, Microfilament Proteins, Animals, Autism Spectrum Disorder/genetics, Autistic Disorder/genetics, Disease Models, Animal, Humans, Mice, Microfilament Proteins/genetics, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, Social Behavior, TRPV Cation Channels/genetics, TRPV Cation Channels, Nerve Tissue Proteins, Article, 3. Good health, 03 medical and health sciences, Autism Spectrum Disorder / genetics, Nerve Tissue Proteins / genetics, Autistic Disorder
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.biorxiv.org/content/biorxiv/early/2021/10/14/2021.10.13.464215.full.pdf
https://www.nature.com/articles/s41380-021-01427-0.pdf
https://pubmed.ncbi.nlm.nih.gov/35022531
https://www.biorxiv.org/content/biorxiv/early/2021/10/14/2021.10.13.464215.full.pdf
https://www.biorxiv.org/content/10.1101/2021.10.13.464215v1
https://archive-ouverte.unige.ch/unige:163455
https://doi.org/10.1038/s41380-021-01427-0
https://serval.unil.ch/resource/serval:BIB_4F9DF43BEEE8.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_4F9DF43BEEE8
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4F9DF43BEEE82 -
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: J Neural Transm (Vienna)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
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RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Journal of neural transmission, vol. 128, no. 11, pp. 1757-1765
Abdulkadir, M, Yu, D, Osiecki, L, King, R A, Fernandez, T V, Brown, L W, Cheon, K A, Coffey, B J, Garcia-Delgar, B, Gilbert, D L, Grice, D E, Hagstrøm, J, Hedderly, T, Heyman, I, Hong, H J, Huyser, C, Ibanez-Gomez, L, Kim, Y K, Kim, Y S, Koh, Y J, Kook, S, Kuperman, S, Leventhal, B, Madruga-Garrido, M, Maras, A, Mir, P, Morer, A, Münchau, A, Plessen, K J, Roessner, V, Shin, E Y, Song, D H, Song, J, Visscher, F, Zinner, S H, Mathews, C A, Scharf, J M, Tischfield, J A, Heiman, G A, Dietrich, A & Hoekstra, P J 2021, ' Investigation of gene–environment interactions in relation to tic severity ', Journal of Neural Transmission, vol. 128, no. 11, pp. 1757-1765 . https://doi.org/10.1007/s00702-021-02396-y
Journal of neural transmission (Vienna, Austria : 1996), vol 128, iss 11Schlagwörter: 0301 basic medicine, Polimorfismo de nucleótido simple, Autism Spectrum Disorder, Autism, Neurodegenerative, Severity of Illness Index, Attention Deficit Disorder with Hyperactivity/genetics, Autism Spectrum Disorder/genetics, Female, Gene-Environment Interaction, Genome-Wide Association Study, Humans, Pregnancy, Tics, Tourette Syndrome, Gene–environment interaction, Pre- and perinatal complications, Tic severity, Tourette syndrome, 2.1 Biological and endogenous factors, Psychology, Predicción, Aetiology, Pediatric, 0303 health sciences, Serious Mental Illness, 3. Good health, Mental Health, Nucleótidos, Sitios genéticos, Mental health, Intellectual and Developmental Disabilities (IDD), Attention Deficit Disorder with Hyperactivity* / genetics, 03 medical and health sciences, Genetics, Metaanálisis, Neurotransmisores, Neurology & Neurosurgery, Autism Spectrum Disorder* / genetics, Human Genome, Psychiatry and Preclinical Psychiatric Studies - Original Article, Neurosciences, Trastorno obsesivo compulsivo, Gene-environment interaction, Brain Disorders, Genes, Attention Deficit Disorder with Hyperactivity, Trastorno del espectro autista, Síndrome de Tourette
Dateibeschreibung: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
Zugangs-URL: https://link.springer.com/content/pdf/10.1007/s00702-021-02396-y.pdf
https://europepmc.org/articles/pmc8536549?pdf=render
https://pubmed.ncbi.nlm.nih.gov/34389898
http://hdl.handle.net/10261/269896
http://hdl.handle.net/10668/18374
https://research.rug.nl/en/publications/752a6a37-2bec-4452-9c76-869d5fbe516f
https://hdl.handle.net/11370/752a6a37-2bec-4452-9c76-869d5fbe516f
https://doi.org/10.1007/s00702-021-02396-y
https://link.springer.com/article/10.1007%2Fs00702-021-02396-y
https://pubmed.ncbi.nlm.nih.gov/34389898/
https://europepmc.org/article/PPR/PPR340433
https://link.springer.com/content/pdf/10.1007/s00702-021-02396-y.pdf
https://paperity.org/p/269350392/investigation-of-gene-environment-interactions-in-relation-to-tic-severity
https://www.ncbi.nlm.nih.gov/pubmed/34389898
https://www.medrxiv.org/content/10.1101/2021.05.12.21257005v1
https://medrxiv.org/content/10.1101/2021.05.12.21257005v1.full.pdf
https://serval.unil.ch/notice/serval:BIB_6D97CD3D1149
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_6D97CD3D11496
https://serval.unil.ch/resource/serval:BIB_6D97CD3D1149.P001/REF.pdf
https://hdl.handle.net/10668/18374
https://curis.ku.dk/ws/files/301347390/Investigation.pdf
https://discovery-pp.ucl.ac.uk/id/eprint/10132096/
https://escholarship.org/content/qt4177h5m7/qt4177h5m7.pdf
https://escholarship.org/uc/item/4177h5m7 -
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Autoren: et al.
Quelle: Ilieva, M, Aldana, B I, Vinten, K T, Hohmann, S, Woofenden, T W, Lukjanska, R, Waagepetersen, H S & Michel, T M 2022, 'Proteomic phenotype of cerebral organoids derived from autism spectrum disorder patients reveal disrupted energy metabolism, cellular components, and biological processes', Molecular Psychiatry, vol. 27, no. 9, pp. 3749-3759. https://doi.org/10.1038/s41380-022-01627-2
Schlagwörter: Proteomics, 0301 basic medicine, 0303 health sciences, Proteome, Autism Spectrum Disorder, 3. Good health, Autism Spectrum Disorder/genetics, Proteome/genetics, Organoids, 03 medical and health sciences, Phenotype, Humans, Energy Metabolism, Biological Phenomena
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